Incidental Mutation 'R6543:Pgd'
ID 520922
Institutional Source Beutler Lab
Gene Symbol Pgd
Ensembl Gene ENSMUSG00000028961
Gene Name phosphogluconate dehydrogenase
Synonyms 0610042A05Rik
MMRRC Submission 044669-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R6543 (G1)
Quality Score 182.009
Status Validated
Chromosome 4
Chromosomal Location 149234448-149251162 bp(-) (GRCm39)
Type of Mutation splice site (83 bp from exon)
DNA Base Change (assembly) C to T at 149245209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000081141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084124]
AlphaFold Q9DCD0
Predicted Effect probably null
Transcript: ENSMUST00000084124
SMART Domains Protein: ENSMUSP00000081141
Gene: ENSMUSG00000028961

DomainStartEndE-ValueType
Pfam:NAD_binding_2 3 176 3.2e-52 PFAM
6PGD 180 470 7.75e-219 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156120
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4e1 T C 2: 126,908,525 (GRCm39) V1091A probably benign Het
Arhgef11 A G 3: 87,640,715 (GRCm39) N1320D probably benign Het
Atl3 T A 19: 7,487,463 (GRCm39) F126Y probably damaging Het
Borcs5 C T 6: 134,687,143 (GRCm39) T167M probably damaging Het
Cplane2 T G 4: 140,944,599 (GRCm39) V50G probably benign Het
Creld2 A G 15: 88,709,481 (GRCm39) T331A probably benign Het
Cuzd1 A G 7: 130,911,497 (GRCm39) V494A probably damaging Het
Dclk1 C T 3: 55,407,552 (GRCm39) P244S probably damaging Het
Esyt3 T C 9: 99,220,825 (GRCm39) N126S possibly damaging Het
Focad T C 4: 88,197,493 (GRCm39) S629P unknown Het
Grip1 T C 10: 119,821,499 (GRCm39) L389P probably benign Het
Igkv4-91 A T 6: 68,745,582 (GRCm39) D105E probably damaging Het
Il20ra G A 10: 19,625,071 (GRCm39) A117T probably damaging Het
Il6ra A G 3: 89,784,170 (GRCm39) V367A probably damaging Het
Itga8 C T 2: 12,306,455 (GRCm39) V47M probably damaging Het
Limk2 T C 11: 3,300,682 (GRCm39) Y220C probably damaging Het
Lims1 T A 10: 58,248,273 (GRCm39) C243* probably null Het
Man1a C A 10: 53,811,077 (GRCm39) G435* probably null Het
Msantd5f4 A G 4: 73,557,215 (GRCm39) E16G probably damaging Het
Mtor T A 4: 148,630,053 (GRCm39) I2250N probably damaging Het
N4bp1 G A 8: 87,588,534 (GRCm39) Q135* probably null Het
Nbeal2 A T 9: 110,473,526 (GRCm39) D76E probably benign Het
Nbn T C 4: 15,986,605 (GRCm39) S669P probably benign Het
Nfrkb C T 9: 31,312,281 (GRCm39) Q456* probably null Het
Or6c3b C A 10: 129,527,859 (GRCm39) G17V probably benign Het
Pcnx3 C T 19: 5,715,275 (GRCm39) A1557T probably benign Het
Prokr2 T A 2: 132,215,819 (GRCm39) Q53L probably benign Het
Pxmp4 C A 2: 154,429,979 (GRCm39) A137S possibly damaging Het
Rasef C T 4: 73,698,756 (GRCm39) probably benign Het
Scpppq1 T C 5: 104,222,741 (GRCm39) probably benign Het
Scrt2 C T 2: 151,935,063 (GRCm39) A72V probably benign Het
Sipa1l2 T C 8: 126,177,101 (GRCm39) E1171G possibly damaging Het
Slc26a8 T C 17: 28,857,375 (GRCm39) T923A possibly damaging Het
Slco1a6 T C 6: 142,078,872 (GRCm39) K141R probably benign Het
Slfn5 T A 11: 82,849,492 (GRCm39) probably null Het
Sympk A T 7: 18,770,755 (GRCm39) H282L probably damaging Het
Tnr A G 1: 159,751,677 (GRCm39) Y1324C probably damaging Het
Topaz1 A G 9: 122,577,600 (GRCm39) N170S possibly damaging Het
Trav6-3 T C 14: 53,666,219 (GRCm39) M1T probably null Het
Trim66 A G 7: 109,075,086 (GRCm39) S392P probably benign Het
Ttn T C 2: 76,599,155 (GRCm39) T10958A probably damaging Het
Ubr7 A G 12: 102,734,494 (GRCm39) K256R probably benign Het
Other mutations in Pgd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02173:Pgd APN 4 149,241,210 (GRCm39) missense probably damaging 1.00
IGL02480:Pgd APN 4 149,241,075 (GRCm39) missense probably damaging 1.00
IGL03028:Pgd APN 4 149,246,084 (GRCm39) critical splice donor site probably null
IGL03370:Pgd APN 4 149,249,685 (GRCm39) missense probably damaging 1.00
R0398:Pgd UTSW 4 149,238,339 (GRCm39) missense probably damaging 1.00
R0601:Pgd UTSW 4 149,241,267 (GRCm39) splice site probably benign
R0980:Pgd UTSW 4 149,238,768 (GRCm39) splice site probably null
R1475:Pgd UTSW 4 149,241,232 (GRCm39) missense probably benign 0.00
R3826:Pgd UTSW 4 149,250,461 (GRCm39) splice site probably benign
R4531:Pgd UTSW 4 149,241,234 (GRCm39) missense probably benign 0.01
R4832:Pgd UTSW 4 149,241,048 (GRCm39) intron probably benign
R6352:Pgd UTSW 4 149,245,209 (GRCm39) splice site probably null
R6353:Pgd UTSW 4 149,245,209 (GRCm39) splice site probably null
R6485:Pgd UTSW 4 149,240,876 (GRCm39) splice site probably null
R6514:Pgd UTSW 4 149,245,209 (GRCm39) splice site probably null
R6519:Pgd UTSW 4 149,235,343 (GRCm39) nonsense probably null
R7153:Pgd UTSW 4 149,246,135 (GRCm39) missense probably benign
R9517:Pgd UTSW 4 149,249,668 (GRCm39) missense possibly damaging 0.61
R9649:Pgd UTSW 4 149,235,596 (GRCm39) missense probably damaging 1.00
Z1176:Pgd UTSW 4 149,251,136 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GCGCTGTGCAGTACTCTAAG -3'
(R):5'- TTAGAGAAGATGCCGGGACC -3'

Sequencing Primer
(F):5'- GTGCAGTACTCTAAGAGATGCTCTC -3'
(R):5'- AGATGCCGGGACCTCAAG -3'
Posted On 2018-06-06